Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0014848 (achalasia)
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Human Gene/Protein
GDP-mannose pyrophosphorylase A 13.5
ADRACALIN 13.5
achalasia variant 12.5
GMPPA 12.2
AAAS 12.2
POEM 10.7
GUCY1A3 10.1
FGD2 9.9
FGD3 9.7
GP210 9.6
GMPPB 9.4
nuclear pore protein 8.9
MRAP 8.8
TPIT 8.7
COL4A6 8.5
TXNRD2 8.3
NDC1 8.2
thioredoxin reductase 2 8.1
nuclear pore complex protein 8.1
ACTH receptor 8.0
POM121 7.9
HLA-DQB1*05 7.9
melanocortin 2 receptor 7.8
SGPL1 7.8
WD-repeat protein 7.6
HLA DQA1 7.6
complement component C9 7.5
type II keratin 7.4
autosomal recessive) 7.3
HLA-DQB1*03 7.3
LHX4 7.3
DQB1*0603 7.3
GDP-mannose pyrophosphorylase 7.2
HD3 7.1
PABPN1 7.1
DQ1 7.1
LMN 7.0
nitric oxide synthase 1 7.0
FTH1 7.0
KRT8 7.0
human leukocyte antigen class II 7.0
HGD 6.9
PASP 6.9
GIF 6.8
Steroidogenic acute regulatory protein 6.8
UBR1 6.8
SCN8A 6.6
NR0B1 6.5
HD2 6.3
MCM4 6.3
nicotinamide nucleotide transhydrogenase 6.3
Alport syndrome 6.3
COL4A5 6.1
CISS 6.1
ACG 6.1
proton pump 5.9
H18 5.9
nucleoporin 5.9
HESX1 5.9
microtubule-associated protein 1B 5.9
IRP 5.8
CPI-17 5.6
HuC 5.6
NNT 5.6
eosinophil major basic protein 5.6
ferritin heavy chain 5.6
A30 5.5
progerin 5.5
elastin gene 5.4
signal transducer and activator of transcription 6 5.4
HD1 5.4
FOXP1 5.4
EGR 5.4
IL23R 5.3
MIM 5.2
Vasoactive intestinal peptide 5.2
MARS 5.2
ATG16L1 5.1
eosinophil-derived neurotoxin 5.1
DAX1 5.1
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Disease
NID A 13.5
achalasia 13.5
Rectosigmoid junction 13.5
Atypical bulimia nervosa 13.5
Rectosigmoid junction 13.5
Primary achalasia 13.1
Heller 12.6
esophageal spasm 12.5
Familial visceral neuropathy 12.5
Esophageal erosions 11.9
Nutcracker esophagus 11.9
Intestinal Dysplasia 11.9
Cricopharyngeal achalasia 11.8
Esophageal dysphagia 11.7
NID B 11.5
megaesophagus 11.4
chalasia 11.2
Inflammatory neuropathy 10.7
Schatzki's ring 10.5
Bulbar weakness 10.5
CISS1 10.5
Pseudocholinesterase deficiency 10.3
esophageal dysmotility 10.3
Oropharyngeal dysphagia 10.1
pyopneumopericardium 10.0
FGD2 9.9
postvagotomy syndrome 9.8
Plummer-Vinson syndrome 9.8
tylosis 9.7
FGD3 9.7
Zenker's diverticulum 9.4
Esophageal perforation 9.4
Worster-Drought syndrome 9.4
Squamous cell carcinoma in situ 9.4
Esophageal 9.3
dysphagia 9.3
Esophagus 9.2
Esophagus 9.2
pylorospasm 9.1
Squamous cell carcinoma in situ 9.0
Esophageal leiomyoma 9.0
Leiomyomatosis 9.0
hiatal hernia 8.9
paraesophageal hernia 8.9
Parotid enlargement 8.8
gastroesophageal reflux disease 8.8
reflux esophagitis 8.8
anal fissure 8.8
gastroparesis 8.6
pyopericardium 8.6
Reflux esophagitis 8.5
Cardia 8.4
esophagitis 8.4
Severe malnutrition 8.4
esophageal stricture 8.3
AAA 8.3
adrenal insufficiency 8.3
ganglioneuromatosis 8.1
aerophagia 8.0
angiectasis 8.0
microcolon 7.7
carcinoma of the esophagus 7.6
Precancerous lesions 7.5
Eosinophilic esophagitis 7.4
esophageal web 7.4
Addisonian crisis 7.3
familial dysautonomia 7.3
aspiration pneumonia 7.3
megacolon 7.3
Adie 7.2
megarectum 7.2
Barrett's esophagus 7.1
primary disorders 7.0
esophageal ulceration 7.0
Hyperamylasemia 6.9
Mallory-Weiss syndrome 6.9
esophageal candidiasis 6.8
ependymitis 6.8
scleroderma 6.8
psychogenic disorders 6.8
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Symptom
Deglutitive inhibition 12.5
Non-cardiac chest pain 10.4
Muscle fibrosis 10.1
Retrosternal pain 9.5
Thoracic pain 9.1
heartburn 9.0
muscular incoordination 8.9
retrosternal discomfort 8.3
Air trapping 8.2
regurgitation 8.1
Motor dysfunction 8.1
Regurgitation 8.0
nocturnal cough 7.7
belching 7.6
painful swallowing 7.4
chronic constipation 7.0
chest pain 7.0
Respiratory symptoms 6.9
blepharospasm 6.3
stridor 6.2
spasm 6.0
Spastic 6.0
Gastrointestinal symptoms 5.9
aphagia 5.9
incoordination 5.7
inanition 5.7
constipation 5.5
hyperemesis gravidarum 5.4
excessive sweating 5.3
No adverse effect 5.1
drooling 5.1
vomiting 5.1
epigastric pain 4.9
bladder pain 4.9
chronic cough 4.8
abdominal fullness 4.8
bloating 4.8
hoarseness 4.8
cough 4.5
retching 4.4
productive cough 4.3
abdominal discomfort 4.3
halitosis 4.3
persistent cough 4.2
hypertonia 4.2
dysarthria 4.2
rales 4.1
atypical chest pain 4.1
right upper quadrant pain 4.1
CSR 4.0
dystonia 4.0
cerebellar ataxia 4.0
cyanosis 3.9
chest tightness 3.9
wheezing 3.8
spasticity 3.6
neurological disability 3.6
dysesthesia 3.6
emaciation 3.4
ENT 3.4
muscle rigidity 3.4
abnormal gait 3.3
hypoproteinemia 3.3
respiratory distress 3.3
dry eye 3.1
discomfort 3.1
asthenia 3.1
nasal discharge 3.1
discomfort 3.0
enuresis 2.8
angina 2.7
weakness 2.7
syncope 2.6
cachexia 2.6
dyspnea 2.5
abdominal pain 2.4
ataxia 2.3
rhinorrhea 2.3
pain 2.3
dysuria 2.2
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Drug
Edrophonium chloride 9.9
Botox 9.0
Histalog 8.6
Histalog 8.4
BOTOX 8.4
Buscopan 8.2
Ferrous sulfate 7.1
Lugol 6.8
EDR 6.7
Nesiritide 6.5
Zmax 6.4
Dihydroergotamine 5.9
CSI 4.6
Diphenhydramine 4.4
Vicryl 4.4
Azithromycin 4.2
Hypaque 4.2
BoNT/A 3.7
Gastro 3.6
Omeprazole 3.5
Prednisone 3.5
Atropine 3.4
Scopolamine 3.1
Allergen 2.9
Coral 2.9
CPR 2.8
ENT 2.7
nitroglycerin 2.7
Dakar 2.4
Glucagon 1.6
Cardiovasc 1.0
Monit 0.7
Leaf -0.9
Asthma -1.2
IL-2 -1.4
Dial -1.4
CSF -1.4
lysine -2.4
Enzyme
GDP-mannose pyrophosphorylase 7.0
botulinum neurotoxin 4.6
transhydrogenase 4.0
MCS 3.9
NADPH-diaphorase 3.9
ubiquitin-protein ligase 3.8
dihydropyrimidine dehydrogenase 3.8
dihydropyrimidine dehydrogenase 3.2
dopamine beta-hydroxylase 3.0
PRA 2.8
guanylate cyclase 2.7
prostate-specific membrane antigen 2.7
NOS 2.6
enolase 2.6
NO synthase 2.3
hypoxanthine-guanine phosphoribosyltransferase 2.2
myosin light chain kinase 2.1
protein phosphatase 2A 1.9
granzyme B 1.8
UDP-glucuronosyltransferase 1.8
cholinesterase 1.4
CPR 1.1
acetylcholinesterase 1.0
phosphodiesterase 0.9
glutathione reductase 0.3
ERK -0.5
DNA polymerase -0.6
creatine kinase -0.7
adenylate cyclase -0.8
renin -1.7
luciferase -1.7
alkaline phosphatase -2.1
protein kinase C -2.1
catalase -2.3
peroxidase -2.5
protein kinase -2.8
mitogen-activated protein kinase -3.1
Compound
Edrophonium 8.2
barium 7.5
DQ1 7.1
Dihydroergotamine 6.8
Ferrous sulfate 6.5
Bethanechol 6.0
IPN 5.9
TBE 5.8
Pentagastrin 5.8
Allergan 5.5
Lactulose 5.5
ISDN 5.5
Botulinum toxin type A 5.4
IAS 5.4
DHC 5.2
Ach 5.1
Nifedipine 5.1
Diphenhydramine 5.1
PPI 5.0
Sildenafil 5.0
Mefloquine 5.0
Mefloquine 5.0
DES 4.6
Pyrazinamide 4.6
ACTH 4.3
Hypaque 4.1
DOS 4.1
Spironolactone 4.0
AAA 3.9
DEP 3.9
Polypeptide 3.7
DEP 3.5
CAA 3.5
Atropine 3.4
Omeprazole 3.2
Diltiazem 3.2
Diltiazem 3.2
Luminal 3.2
Salix 3.1
CIT 3.1
UDP-galactose 2.9
Prednisone 2.8
TAA 2.8
folinic acid 2.7
Verapamil 2.6
Rifampicin 2.4
Neuronal 2.3
Calcitonin 2.3
Parenteral 2.2
SEE 2.2
MMC 2.1
Austin 2.0
Adrenal 2.0
PPD 2.0
A 42 2.0
PAC 1.9
PPD 1.9
Estrogen 1.8
N-acetylaspartate 1.8
nitric oxide 1.8
DNP 1.7
DTPA 1.7
5-FU 1.7
Verapamil 1.7
Naloxone 1.6
Glucagon 1.6
THE 1.5
cGMP 1.4
ANA 1.4
ANA 1.4
mercury 1.3
His 1.3
aldosterone 1.2
aspartic acid 1.1
aspartic acid 1.1
Cortisol 1.0
aspartic acid 1.0
A 1 0.8
aspartic acid 0.8
Clin 0.8
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